Canonical Allele Identifier: CA501342273

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574171G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496810G>A , CM000679.2:g.63496810G>A	GRCh38
NC_000017.10:g.61574171G>A , CM000679.1:g.61574171G>A	GRCh37
NC_000017.9:g.58927903G>A	NCBI36
NG_011648.1:g.24738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3516G>A MANE Select	ENSP00000290866.4:p.Lys1172=
ENST00000290863.10:c.1794G>A	ENSP00000290863.6:p.Lys598=
ENST00000290866.9:c.3516G>A	ENSP00000290866.4:p.Lys1172=
ENST00000413513.7:c.1671G>A	ENSP00000392247.3:p.Lys557=
ENST00000428043.5:c.3516G>A	ENSP00000397593.2:p.Lys1172=
ENST00000577418.5:n.526G>A
ENST00000577647.2:c.1794G>A	ENSP00000464149.1:p.Lys598=
ENST00000578839.5:c.*1271G>A	ENSP00000462110.2:n.*1271G>A
ENST00000579314.5:c.*1245G>A	ENSP00000462599.1:n.*1245G>A
ENST00000579409.1:c.203G>A
ENST00000582244.1:n.390G>A
NM_000789.3:c.3516G>A	NP_000780.1:p.Lys1172=
NM_001178057.1:c.1671G>A	NP_001171528.1:p.Lys557=
NM_152830.2:c.1794G>A	NP_690043.1:p.Lys598=
XM_005257110.1:c.2967G>A	XP_005257167.1:p.Lys989=
XM_006721737.2:c.1854G>A	XP_006721800.2:p.Lys618=
XM_006721737.3:c.1854G>A	XP_006721800.2:p.Lys618=
NM_000789.4:c.3516G>A MANE Select	NP_000780.1:p.Lys1172=
NM_001178057.2:c.1671G>A	NP_001171528.1:p.Lys557=
NM_152830.3:c.1794G>A	NP_690043.1:p.Lys598=
NM_001382700.1:c.2949G>A	NP_001369629.1:p.Lys983=
NM_001382701.1:c.2664G>A	NP_001369630.1:p.Lys888=
NM_001382702.1:c.1131G>A	NP_001369631.1:p.Lys377=
NR_168483.1:n.1894G>A